FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3136709279> ?p ?o ?g. }

• W3136709279 endingPage "104195" @default.
• W3136709279 startingPage "104195" @default.
• W3136709279 abstract "The cytochrome c-oxidase (COX) enzyme, also known as mitochondrial complex IV (MT-C4D), is a transmembrane protein complex found in mitochondria. COX deficiency is one of the most frequent causes of electron transport chain defects in humans. Therefore, high energy demand organs and tissues are affected in patients with mutations in the COX15 gene, with variable phenotypic expressiveness. We describe the case of a male newborn with hypertrophic cardiomyopathy and serum and cerebrospinal fluid hyperlacticaemia, whose exome sequencing revealed two variants in a compound heterozygous state: c.232G > A; p.(Gly78Arg), classified as likely pathogenic, and c.452C > G; p.(Ser151Ter), as pathogenic; the former never previously described in the literature." @default.
• W3136709279 created "2021-03-29" @default.
• W3136709279 creator A5008913189 @default.
• W3136709279 creator A5014204202 @default.
• W3136709279 creator A5019433986 @default.
• W3136709279 creator A5019753858 @default.
• W3136709279 creator A5030850509 @default.
• W3136709279 creator A5030927606 @default.
• W3136709279 creator A5031181065 @default.
• W3136709279 creator A5035649074 @default.
• W3136709279 creator A5036639448 @default.
• W3136709279 creator A5038872191 @default.
• W3136709279 creator A5059961412 @default.
• W3136709279 creator A5063764197 @default.
• W3136709279 creator A5090506515 @default.
• W3136709279 date "2021-05-01" @default.
• W3136709279 modified "2023-10-01" @default.
• W3136709279 title "A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review" @default.
• W3136709279 cites W1968746186 @default.
• W3136709279 cites W1970413157 @default.
• W3136709279 cites W1976535783 @default.
• W3136709279 cites W1986963451 @default.
• W3136709279 cites W2018241890 @default.
• W3136709279 cites W2019011355 @default.
• W3136709279 cites W2028712679 @default.
• W3136709279 cites W2032678208 @default.
• W3136709279 cites W2050796659 @default.
• W3136709279 cites W2051195600 @default.
• W3136709279 cites W2051978340 @default.
• W3136709279 cites W2088339105 @default.
• W3136709279 cites W2094470473 @default.
• W3136709279 cites W2111326065 @default.
• W3136709279 cites W2129952088 @default.
• W3136709279 cites W2137051822 @default.
• W3136709279 cites W2137886330 @default.
• W3136709279 cites W2138772459 @default.
• W3136709279 cites W2151271025 @default.
• W3136709279 cites W2154599811 @default.
• W3136709279 cites W2164794510 @default.
• W3136709279 cites W2296679523 @default.
• W3136709279 cites W2416095794 @default.
• W3136709279 cites W2521967673 @default.
• W3136709279 cites W2583025663 @default.
• W3136709279 cites W2884261861 @default.
• W3136709279 cites W3013260914 @default.
• W3136709279 cites W3029661147 @default.
• W3136709279 cites W4244647820 @default.
• W3136709279 doi "https://doi.org/10.1016/j.ejmg.2021.104195" @default.
• W3136709279 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33746038" @default.
• W3136709279 hasPublicationYear "2021" @default.
• W3136709279 type Work @default.
• W3136709279 sameAs 3136709279 @default.
• W3136709279 citedByCount "1" @default.
• W3136709279 countsByYear W31367092792022 @default.
• W3136709279 crossrefType "journal-article" @default.
• W3136709279 hasAuthorship W3136709279A5008913189 @default.
• W3136709279 hasAuthorship W3136709279A5014204202 @default.
• W3136709279 hasAuthorship W3136709279A5019433986 @default.
• W3136709279 hasAuthorship W3136709279A5019753858 @default.
• W3136709279 hasAuthorship W3136709279A5030850509 @default.
• W3136709279 hasAuthorship W3136709279A5030927606 @default.
• W3136709279 hasAuthorship W3136709279A5031181065 @default.
• W3136709279 hasAuthorship W3136709279A5035649074 @default.
• W3136709279 hasAuthorship W3136709279A5036639448 @default.
• W3136709279 hasAuthorship W3136709279A5038872191 @default.
• W3136709279 hasAuthorship W3136709279A5059961412 @default.
• W3136709279 hasAuthorship W3136709279A5063764197 @default.
• W3136709279 hasAuthorship W3136709279A5090506515 @default.
• W3136709279 hasConcept C104317684 @default.
• W3136709279 hasConcept C12125453 @default.
• W3136709279 hasConcept C123249941 @default.
• W3136709279 hasConcept C127716648 @default.
• W3136709279 hasConcept C16671776 @default.
• W3136709279 hasConcept C170493617 @default.
• W3136709279 hasConcept C24530287 @default.
• W3136709279 hasConcept C28859421 @default.
• W3136709279 hasConcept C54355233 @default.
• W3136709279 hasConcept C86803240 @default.
• W3136709279 hasConceptScore W3136709279C104317684 @default.
• W3136709279 hasConceptScore W3136709279C12125453 @default.
• W3136709279 hasConceptScore W3136709279C123249941 @default.
• W3136709279 hasConceptScore W3136709279C127716648 @default.
• W3136709279 hasConceptScore W3136709279C16671776 @default.
• W3136709279 hasConceptScore W3136709279C170493617 @default.
• W3136709279 hasConceptScore W3136709279C24530287 @default.
• W3136709279 hasConceptScore W3136709279C28859421 @default.
• W3136709279 hasConceptScore W3136709279C54355233 @default.
• W3136709279 hasConceptScore W3136709279C86803240 @default.
• W3136709279 hasFunder F4320320997 @default.
• W3136709279 hasFunder F4320321091 @default.
• W3136709279 hasFunder F4320322025 @default.
• W3136709279 hasIssue "5" @default.
• W3136709279 hasLocation W31367092791 @default.
• W3136709279 hasOpenAccess W3136709279 @default.
• W3136709279 hasPrimaryLocation W31367092791 @default.
• W3136709279 hasRelatedWork W138964897 @default.
• W3136709279 hasRelatedWork W1530402712 @default.
• W3136709279 hasRelatedWork W2036468699 @default.

• next